Article
Genotype-phenotype correlation in Pompe disease, a step forward.
Orphanet journal of rare diseases - 8 Aug 2014
De Filippi Paola, Saeidi Kolsoum, Ravaglia Sabrina, Dardis Andrea, Angelini Corrado, Mongini Tiziana, Morandi Lucia, Moggio Maurizio, Di Muzio Antonio, Filosto Massimiliano, Bembi Bruno, Giannini Fabio, Marrosu Giovanni, Rigoldi Miriam, Tonin Paola, Servidei Serenella, Siciliano Gabriele, Carlucci Annalisa, Scotti Claudia, Comelli Mario, Toscano Antonio, Danesino Cesare
Abstract excerpt
BACKGROUND: Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA). A wide clinical variability occurs also in patients sharing the same GAA mutations, even within the same family. METHODS: For a large series of GSDII patients we collected some clinical data as age of onset of the disease, presence or absence of muscular pain, Walton score, 6-Minute...
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